Evidence map›Paper›PMID 24051999›Full record

ReviewHormone research in paediatrics2013

Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options.

Oscar Rubio-Cabezas, Sian Ellard

Registry-linked trialOpen access · bronzeAbstract readReview
In one paragraph

Review in Hormone research in paediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03169413 (Human Leucocytic Antigen Typing and Mutation of Adenosine Triphosphate Sensitive Potassium Channel Gene in Diabetic Patients Diagnosed Under the Age of One Year.), which is not on this map. Cited by 47 papers.

0numbers the graph read from it
0cells of the map it votes in
47citing papers in PubMed
8.1field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT03169413 unknown statusnot on this mapstarted 2018, after this paper: background citation

Human Leucocytic Antigen Typing and Mutation of Adenosine Triphosphate Sensitive Potassium Channel Gene in Diabetic Patients Diagnosed Under the Age of One Year.

TypeobservationalSponsorAssiut UniversityRan2018 to 2020Enrolled100ConditionsStudy Genetic Basis of Infantile Onset Diabetes MellitusArmsHuman Leucocytic antigen typing and mutation of adenosine triphosphate sensitive K channel gene in diabetic patients diagnosed under the age of one year.
3 · Its place in the literature

Who cites it

47 citing papers in PubMed, 113 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Knowledge, Attitudes, and Practices in Neonatal Diabetes Mellitus Management: the JEnious-NeOnatal-DIabetes (JENODI) Survey.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2025
    Article
  6. Article
  7. Review
  8. A New Variant of theJournal of clinical research in pediatric endocrinology · 2024
    Article
  9. Article
  10. Review
  11. Monogenic diabetes.Nature reviews. Disease primers · 2023
    Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Growth and development in monogenic forms of neonatal diabetes.Current opinion in endocrinology, diabetes, and obesity · 2022
    Review
  18. Review
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 2 institutions in 3 countries.

Oscar Rubio-CabezasDepartment of Paediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Sian Ellard
Hospital Infantil Universitario Niño Jesús · ESUniversity of Exeter · GB

Funding

Wellcome Trust 098395
6 · The paper itself

Abstract

Over the last decade, we have witnessed major advances in the understanding of the molecular basis of neonatal and infancy-onset diabetes. It is now widely accepted that diabetes presenting before 6 months of age is unlikely to be autoimmune type 1 diabetes. The vast majority of such patients will have a monogenic disorder responsible for the disease and, in some of them, also for a number of other associated extrapancreatic clinical features. Reaching a molecular diagnosis will have immediate clinical consequences for about half of affected patients, as identification of a mutation in either of the two genes encoding the ATP-sensitive potassium channel allows switching from insulin injections to oral sulphonylureas. It also facilitates genetic counselling within the affected families and predicts clinical prognosis. Importantly, monogenic diabetes seems not to be limited to the first 6 months but extends to some extent into the second half of the first year of life, when type 1 diabetes is the more common cause of diabetes. From a scientific perspective, the identification of novel genetic aetiologies has provided important new knowledge regarding the development and function of the human pancreas.

Indexed as

Diabetes Mellitus, Type 1Genetic Diseases, InbornInfant, Newborn, DiseasesKATP ChannelsMutationFemaleHumansInfantInfant, NewbornMaleKATP Channels

Identifiers

PMID24051999
PMCPMC3884170
OpenAlexW1997431666

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.